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常染色体隐性遗传性I型假性醛固酮减少症的表型变异：一个实例

Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point.

作者信息

Kala Ahluwalia Gunjeet, Dasouki Majed, Lennon Angela

机构信息

Department of Pediatrics, Division of Pediatric Nephrology, University of Kansas Medical Center Kansas City, Kansas.

Department of Genetics, King Faisal Specialist Hospital & Research Center Riyadh, Saudi Arabia ; Department of Neurology, University of Kansas Medical Center Kansas City, Kansas.

出版信息

Clin Case Rep. 2014 Dec;2(6):326-30. doi: 10.1002/ccr3.129. Epub 2014 Sep 15.

DOI:10.1002/ccr3.129
PMID:25548639
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4270719/
Abstract

We present a 27-month-old male infant with pseudohypoaldosteronism, with two novel α-subunits, epithelial sodium channel (ENaC) mutations. Despite the presence of the ENaC in the lungs, kidneys, and exocrine glands, he continues to only have renal and exocrine involvement, stressing differential effects of the mutation in each organ.

摘要

我们报告了一名27个月大患有假性醛固酮减少症的男婴，其上皮钠通道（ENaC）的α亚基存在两种新的突变。尽管肺部、肾脏和外分泌腺中存在ENaC，但他仅持续存在肾脏和外分泌腺受累的情况，这突出了该突变在每个器官中的不同作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d8b/4270719/bf55f48c433d/ccr30002-0326-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d8b/4270719/bf55f48c433d/ccr30002-0326-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d8b/4270719/bf55f48c433d/ccr30002-0326-f1.jpg

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A homozygous missense mutation in SCNN1A is responsible for a transient neonatal form of pseudohypoaldosteronism type 1.
遗传性儿童肾上腺皮质功能不全的罕见形式：排除先天性肾上腺皮质增生症。
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A Unique Genotype of Pseudohypoaldosteronism Type 1b in a Highly Consanguineous Population.高度近亲通婚人群中1b型假性醛固酮增多症的一种独特基因型
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A Novel Variation in a Patient with Autosomal-recessive Pseudohypoaldosteronism Type 1.一例常染色体隐性遗传假性醛固酮减少症 1 型患者的新变异。
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